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Flashcards in chem path Deck (32):
1

marker of chronic alcohol use

gamma GT

2

acute intermittent porphyria

PBG deaminase deficiency
PC: abdo pain, seizures, psych, n+v, tachy, weakness
NO cutaneous manifestations
Dx: ALA + PBG in urine = port wine urine
Precipitants: alcohol, stress etc

3

porphyria cutanea tarda

uroporphyrinogen decarboxylase deficiency
cutaneous sx
dx: urinary uro/coproporphyrins and high ferritin

4

dequervains

hyperthyroidism - self limiting post viral goitre (painful)
low uptake technetium scan
tx: NSAIDs, beta blockers

5

high uptake technetium svn + tx

graves, toxic adenoma, toxic multinodular goitre
tx: Bblockers, carbamazine/propylthiouracil

6

thyroid neoplasia produces calcitonin

medullary (MEN2) - parafollicular cells

7

most common thyroid neoplasia

papillary

8

well differentiated thyroid cancer mets to tissues

follicular

9

thyroid cancer mets to LNs

papillary

10

rare fast growing thyroid ca in elderly

anaplstic

11

conns

adrenal tumour causing hypertension and hyperaldosteronism --> high Na, low K
Ix: Aldosterone:renin ratio
Tx spironolactone

12

Addisons

hypoadrenocorticalism - low aldosterone and low cortisol
high K, low Na, low glucose
postural hypotension
skin pigmentation
muscle weakness
lethargy, depression
Dx: synathen test
tx: hormone replacement

13

cushings

dx: low/high dose dex

14

salicylate OD tx

haemodialysis

15

drug causing dilated pupils x2

ecstasy (agitation + vasopressin secretion)
TCA's (drowsiness)

16

creatinine clearance

([urine Cr] x urine vol/min) / [plasma Cr]

17

GFR

urine conc x urine flow / plasma conc

18

commonest cause of addisons worldwide

tb

19

nelsons syndrome

rapid enlargement of a pre-existing ACTH-secreting pituitary adenoma that occurs after the removal of both adrenal glands because of the lack of the negative feedback of cortisol on the production of ACTH.

PC: muscle weakness and skin hyper pigmentation

20

commonest enzyme deficiency in CAH

21-Hydroxylase Deficiency (aldosterone and cortisol both reduced, testosterone, 17-Hydroxyprogesterone and progesterone increased)

21

seen in urine of CAH pt

Pregnanetriol

22

cyp21 deficiency

21-hydroxylase deficiency = CAH

23

Von Hippel-Lindau disease.

commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.

24

gold standard for measuring GFR

inulin

25

McArdle’s glycogen storage disease (type V)

myophosphorylse deficiency = muscle version of glycogen phosphorylase which breaks down glycogen to glucose-1-phosphate.
Cause muscle stiffness after exercise

26

Fabry’s disease

X-linked disorder of glycolipid metabolism due to deficiency of Galactosidase A

27

Recommended therapy used in an attack of acute intermittent porphyria,

Haem arginate

28

Lesch-Nyhan Syndrome

juvenile gout

29

Kallman's syndrome

hypogonadotropic hypogonadism

30

Waldenstrom's macroglobulinaemia

B cell lymphoma causing raised IgM - elderly men

31

alpha 1 antitrypsin

serine protease - inhibits neutrophil elastase breakdown of elastin in alveoli. Deficiency = emphysema (accumulation in liver)

32

Crigler-Najjar syndrome

Autosomal recessive disorder affecting metabolism of bilirubin causing a non-haemolytic jaundice, resulting in raised unconjugated bilirubin and kernicterus. Consanguinity is a risk factor.